Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Cannie, Douglas E. and Protonotarios, Alexandros and Bakalakos, Athanasios and Syrris, Petros and Lorenzini, Massimiliano and De Stavola, Bianca and Bjerregaard, Louise and Dybro, Anne M. and Hey, Thomas M. and Hansen, Frederikke G. and Navarro Peñalver, Marina and Crespo-Leiro, Maria G. and Larrañaga-Moreira, Jose M. and de Frutos, Fernando and Johnson, Renee and Slater, Thomas A. and Monserrat, Lorenzo and Sengupta, Anshuman and Mestroni, Luisa and Taylor, Matthew R.G. and Sinagra, Gianfranco and Bilinska, Zofia and Solla-Ruiz, Itziar and Arana Achaga, Xabier and Barriales-Villa, Roberto and Garcia-Pavia, Pablo and Gimeno, Juan R. and Dal Ferro, Matteo and Merlo, Marco and Wahbi, Karim and Fatkin, Diane and Mogensen, Jens and Rasmussen, Torsten B. and Elliott, Perry M. (2023) Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants. Circulation: Genomic and Precision Medicine, 16 (5). pp.434-441. ISSN 2574-8300

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Link to published document: http://doi.org/10.1161/CIRCGEN.123.004059


BACKGROUND: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes. METHODS: Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. RBM20 variant carriers with left ventricular systolic dysfunction (RBM20(LVSD)) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction. RESULTS: Longitudinal follow-up data were available for 143 RBM20 variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank P=0.07 and P=0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank P<0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) RBM20(LVSD) versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank P<0.001). RBM20 variant carriage conferred a 6.0-fold increase in risk of the primary end point. CONCLUSIONS: RBM20 variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female RBM20 variant carriers is similar, but male sex is strongly associated with ESHF.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 01 May 2024 04:05
Last Modified: 01 May 2024 04:05
URI: http://eprints.victorchang.edu.au/id/eprint/1456

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